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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing by Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
Published 2023-09-01
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Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism by Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter
Published 2020-12-01
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